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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQSEC2
(A1470T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IQSEC2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
IQSEC2
(R1341K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 1
+2 more
GConflicting classifications of pathogenicity
IQSEC2
(R863W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IQSEC2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
IQSEC2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
IQSEC2
(R718Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IQSEC2
(G571S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
IQSEC2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
IQSEC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IQSEC2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
IQSEC2
(G187D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
IQSEC2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
IQSEC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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